Research output per year
Research output per year
Personal profile
Research interests
Specialisation
Clinical chemistry
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Vaz, F. M., Jamal, Y., Barto, R., Gelb, M. H., DeBarber, A. E., Wevers, R. A., Nelen, M. R., Verrips, A., Bootsma, A. H., Bouva, M. J., Kleise, N., van der Zee, W., He, T., Salomons, G. S. & Huidekoper, H. H., 15 Jan 2023, In: Clinica chimica acta. 539, p. 170-174 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Sex-specific newborn screening for X-linked adrenoleukodystrophy
Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 others, 17 Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 116-128 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al
Leidi, A., Previtali, R., Parazzini, C., Raviglione, F., Carelli, S., Mendes, M. I., Salomons, G. S., Iascone, M. & Tonduti, D., 1 May 2022, In: Genetics in Medicine. 24, 5, p. 1152-1153 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
1 Citation (Scopus) -
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
Wasim, M., Khan, H. N., Ayesha, H., Iqbal, M., Tawab, A., Irfan, M., Kanhai, W., Goorden, S. M. I., Stroomer, L., Salomons, G., Vaz, F. M., Karnebeek, C. D. M. V. & Awan, F. R., 28 Mar 2022, In: Journal of pediatric endocrinology & metabolism. 35, 3, p. 325-332 8 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey
IFCC Committee on Emerging Technologies in Paediatric Laboratory Medicine, Aug 2022, In: Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. 33, 2, p. 194-208 15 p.Research output: Contribution to journal › Review article › Academic › peer-review